Molecular portraits and the family tree of cancer.

abstract：:An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

journal_title：Nature genetics

authors： Chan-Seng-Yue M,Kim JC,Wilson GW,Ng K,Figueroa EF,O'Kane GM,Connor AA,Denroche RE,Grant RC,McLeod J,Wilson JM,Jang GH,Zhang A,Liang SB,Borgida A,Chadwick D,Kalimuthu S,Lungu I,Bartlett JMS,Krzyzanowski PM,Sandhu V

更新日期：2020-04-01 00:00:00

abstract：:Inactivation of TGF-beta family signaling is implicated in colorectal tumor progression. Using cis-Apc(+/Delta716) Smad4(+/-) mutant mice (referred to as cis-Apc/Smad4), a model of invasive colorectal cancer in which TGF-beta family signaling is blocked, we show here that a new type of immature myeloid cell (iMC) is r...

journal_title：Nature genetics

authors： Kitamura T,Kometani K,Hashida H,Matsunaga A,Miyoshi H,Hosogi H,Aoki M,Oshima M,Hattori M,Takabayashi A,Minato N,Taketo MM

更新日期：2007-04-01 00:00:00

abstract：:Regulatory variants are often context specific, modulating gene expression in a subset of possible cellular states. Although these genetic effects can play important roles in disease, the molecular mechanisms underlying context specificity are poorly understood. Here, we identified shared quantitative trait loci (QTLs...

journal_title：Nature genetics

authors： Alasoo K,Rodrigues J,Mukhopadhyay S,Knights AJ,Mann AL,Kundu K,HIPSCI Consortium.,Hale C,Dougan G,Gaffney DJ

更新日期：2018-03-01 00:00:00

abstract：:During vertebrate embryogenesis, myogenic precursor cells of limb muscles delaminate from the ventro-lateral edge of the somitic dermomyotome and migrate to the limb buds, where they congregate into dorsal and ventral muscle masses. It has been proposed that the surrounding connective tissue controls muscle pattern fo...

journal_title：Nature genetics

authors： Schäfer K,Braun T

更新日期：1999-10-01 00:00:00

abstract：:Joubert syndrome-related disorders (JSRD) are a group of syndromes sharing the neuroradiological features of cerebellar vermis hypoplasia and a peculiar brainstem malformation known as the 'molar tooth sign'. We identified mutations in the CEP290 gene in five families with variable neurological, retinal and renal mani...

journal_title：Nature genetics

authors： Valente EM,Silhavy JL,Brancati F,Barrano G,Krishnaswami SR,Castori M,Lancaster MA,Boltshauser E,Boccone L,Al-Gazali L,Fazzi E,Signorini S,Louie CM,Bellacchio E,International Joubert Syndrome Related Disorders Study Group.,B

更新日期：2006-06-01 00:00:00

abstract：:It is now feasible to map disease genes by screening the genome for linkage disequilibrium between the disease and marker alleles. This report presents the first application of this approach for a previously unmapped locus. A gene for benign recurrent intrahepatic cholestasis (BRIC) was mapped to chromosome 18 by sear...

journal_title：Nature genetics

authors： Houwen RH,Baharloo S,Blankenship K,Raeymaekers P,Juyn J,Sandkuijl LA,Freimer NB

更新日期：1994-12-01 00:00:00

abstract：:High hyperdiploid (51-67 chromosomes) acute lymphoblastic leukemia (ALL) is one of the most common childhood malignancies, comprising 30% of all pediatric B cell-precursor ALL. Its characteristic genetic feature is the nonrandom gain of chromosomes X, 4, 6, 10, 14, 17, 18 and 21, with individual trisomies or tetrasomi...

journal_title：Nature genetics

authors： Paulsson K,Lilljebjörn H,Biloglav A,Olsson L,Rissler M,Castor A,Barbany G,Fogelstrand L,Nordgren A,Sjögren H,Fioretos T,Johansson B

更新日期：2015-06-01 00:00:00

abstract：:Patients with a combined immunodeficiency characterized by normal numbers but impaired function of T and B cells had a homozygous p.Tyr20His substitution in transferrin receptor 1 (TfR1), encoded by TFRC. The substitution disrupts the TfR1 internalization motif, resulting in defective receptor endocytosis and markedly...

journal_title：Nature genetics

authors： Jabara HH,Boyden SE,Chou J,Ramesh N,Massaad MJ,Benson H,Bainter W,Fraulino D,Rahimov F,Sieff C,Liu ZJ,Alshemmari SH,Al-Ramadi BK,Al-Dhekri H,Arnaout R,Abu-Shukair M,Vatsayan A,Silver E,Ahuja S,Davies EG,Sola-Visne

更新日期：2016-01-01 00:00:00

abstract：:Obesity is a major predisposing factor for the development of several chronic diseases including non-insulin dependent diabetes mellitus (NIDDM) and coronary heart disease (CHD). Leptin is a serum protein which is secreted by adipocytes and thought to play a role in the regulation of body fat. Leptin levels in humans ...

journal_title：Nature genetics

authors： Comuzzie AG,Hixson JE,Almasy L,Mitchell BD,Mahaney MC,Dyer TD,Stern MP,MacCluer JW,Blangero J

更新日期：1997-03-01 00:00:00

abstract：:Advances in sequencing technologies have enabled the identification of mutations acquired by bacterial pathogens during infection. However, it remains unclear whether adaptive mutations fix in the population or lead to pathogen diversification within the patient. Here we study the genotypic diversity of Burkholderia d...

journal_title：Nature genetics

authors： Lieberman TD,Flett KB,Yelin I,Martin TR,McAdam AJ,Priebe GP,Kishony R

更新日期：2014-01-01 00:00:00

abstract：:As genetic marker maps have improved, multipoint linkage analysis has become a crucial part of all disease mapping studies. Paradoxically, multipoint lod scores become increasingly difficult to compute, particularly as the numbers of markers, marker alleles and untyped people increase. We have solved this problem by u...

journal_title：Nature genetics

authors： O'Connell JR,Weeks DE

更新日期：1995-12-01 00:00:00

abstract：:White sponge nevus (WSN) is a benign autosomal dominant disorder which affects non-cornifying stratified squamous epithelia (MIM 193900) (ref. 1). Phenotypically it presents as white 'spongy' plaques (oral leukokeratoses), most commonly in the mouth but also reported in the esophagus and anogenital mucosa. Histologica...

journal_title：Nature genetics

authors： Rugg EL,McLean WH,Allison WE,Lunny DP,Macleod RI,Felix DH,Lane EB,Munro CS

更新日期：1995-12-01 00:00:00

abstract：:Alcohol misuse is the leading cause of cirrhosis and the second most common indication for liver transplantation in the Western world. We performed a genome-wide association study for alcohol-related cirrhosis in individuals of European descent (712 cases and 1,426 controls) with subsequent validation in two independe...

journal_title：Nature genetics

authors： Buch S,Stickel F,Trépo E,Way M,Herrmann A,Nischalke HD,Brosch M,Rosendahl J,Berg T,Ridinger M,Rietschel M,McQuillin A,Frank J,Kiefer F,Schreiber S,Lieb W,Soyka M,Semmo N,Aigner E,Datz C,Schmelz R,Brückner S,Ze

更新日期：2015-12-01 00:00:00

abstract：:Somatic alterations in cancer genes are being detected in normal and premalignant tissue, thus placing greater emphasis on gene-environment interactions that enable disease phenotypes. By combining early genetic alterations with disease-relevant exposures, we developed an integrative mouse model to study gastric prema...

journal_title：Nature genetics

authors： Sethi NS,Kikuchi O,Duronio GN,Stachler MD,McFarland JM,Ferrer-Luna R,Zhang Y,Bao C,Bronson R,Patil D,Sanchez-Vega F,Liu JB,Sicinska E,Lazaro JB,Ligon KL,Beroukhim R,Bass AJ

更新日期：2020-02-01 00:00:00

abstract：:The rate and pattern of sequence substitutions in the mitochondrial DNA (mtDNA) control region (CR) is of central importance to studies of human evolution and to forensic identity testing. Here, we report a direct measurement of the intergenerational substitution rate in the human CR. We compared DNA sequences of two ...

journal_title：Nature genetics

authors： Parsons TJ,Muniec DS,Sullivan K,Woodyatt N,Alliston-Greiner R,Wilson MR,Berry DL,Holland KA,Weedn VW,Gill P,Holland MM

更新日期：1997-04-01 00:00:00

abstract：:Identifying the genes involved in polygenic traits has been difficult. In the 1950s and 1960s, laboratory selection experiments for extreme geotaxic behavior in fruit flies established for the first time that a complex behavioral trait has a genetic basis. But the specific genes responsible for the behavior have never...

journal_title：Nature genetics

authors： Toma DP,White KP,Hirsch J,Greenspan RJ

更新日期：2002-08-01 00:00:00

abstract：:Glutamate receptors are well-known actors in the central and peripheral nervous systems, and altered glutamate signaling is implicated in several neurological and psychiatric disorders. It is increasingly recognized that such receptors may also have a role in tumor growth. Here we provide direct evidence of aberrant g...

journal_title：Nature genetics

authors： Nord KH,Lilljebjörn H,Vezzi F,Nilsson J,Magnusson L,Tayebwa J,de Jong D,Bovée JV,Hogendoorn PC,Szuhai K

更新日期：2014-05-01 00:00:00

abstract：:A layered organization of cells is a common architectural feature of many neuronal formations. Mutations of the zebrafish gene nagie oko (nok) produce a severe disruption of retinal architecture, indicating a key role for this locus in neuronal patterning. We show that nok encodes a membrane-associated guanylate kinas...

journal_title：Nature genetics

authors： Wei X,Malicki J

更新日期：2002-06-01 00:00:00

abstract：:Pancreatic cancer has the lowest survival rate among human cancers, and there are no effective markers for its screening and early diagnosis. To identify genetic susceptibility markers for this cancer, we carried out a genome-wide association study on 981 individuals with pancreatic cancer (cases) and 1,991 cancer-fre...

journal_title：Nature genetics

authors： Wu C,Miao X,Huang L,Che X,Jiang G,Yu D,Yang X,Cao G,Hu Z,Zhou Y,Zuo C,Wang C,Zhang X,Zhou Y,Yu X,Dai W,Li Z,Shen H,Liu L,Chen Y,Zhang S,Wang X,Zhai K,Chang J,Liu Y,Sun M,Cao W,Gao J,Ma Y,Zheng X

更新日期：2011-12-11 00:00:00

abstract：:Interferon regulatory factor 6 (IRF6) belongs to a family of nine transcription factors that share a highly conserved helix-turn-helix DNA-binding domain and a less conserved protein-binding domain. Most IRFs regulate the expression of interferon-alpha and -beta after viral infection, but the function of IRF6 is unkno...

journal_title：Nature genetics

authors： Kondo S,Schutte BC,Richardson RJ,Bjork BC,Knight AS,Watanabe Y,Howard E,de Lima RL,Daack-Hirsch S,Sander A,McDonald-McGinn DM,Zackai EH,Lammer EJ,Aylsworth AS,Ardinger HH,Lidral AC,Pober BR,Moreno L,Arcos-Burgos M,V

更新日期：2002-10-01 00:00:00

abstract：:The epicardial epithelial-mesenchymal transition (EMT) is hypothesized to generate cardiovascular progenitor cells that differentiate into various cell types, including coronary smooth muscle and endothelial cells, perivascular and cardiac interstitial fibroblasts and cardiomyocytes. Here we show that an epicardial-sp...

journal_title：Nature genetics

authors： Martínez-Estrada OM,Lettice LA,Essafi A,Guadix JA,Slight J,Velecela V,Hall E,Reichmann J,Devenney PS,Hohenstein P,Hosen N,Hill RE,Muñoz-Chapuli R,Hastie ND

更新日期：2010-01-01 00:00:00

abstract：:Gastric cancer is classified into intestinal and diffuse types, the latter including a highly malignant form, linitis plastica. A two-stage genome-wide association study (stage 1: 85,576 SNPs on 188 cases and 752 references; stage 2: 2,753 SNPs on 749 cases and 750 controls) in Japan identified a significant associati...

journal_title：Nature genetics

authors： Study Group of Millennium Genome Project for Cancer.,Sakamoto H,Yoshimura K,Saeki N,Katai H,Shimoda T,Matsuno Y,Saito D,Sugimura H,Tanioka F,Kato S,Matsukura N,Matsuda N,Nakamura T,Hyodo I,Nishina T,Yasui W,Hirose H,H

更新日期：2008-06-01 00:00:00

abstract：:A number of studies have suggested that the active derivative of vitamin A, retinoic acid (RA), may be important for early development of mammalian embryos. Severe vitamin A deprivation in rodents results in maternal infertility, precluding a thorough investigation of the role of RA during embryogenesis. Here we show ...

journal_title：Nature genetics

authors： Niederreither K,Subbarayan V,Dollé P,Chambon P

更新日期：1999-04-01 00:00:00

abstract：:We are beginning to elucidate transcriptional regulatory networks on a large scale and to understand some of the structural principles of these networks, but the evolutionary mechanisms that form these networks are still mostly unknown. Here we investigate the role of gene duplication in network evolution. Gene duplic...

journal_title：Nature genetics

authors： Teichmann SA,Babu MM

更新日期：2004-05-01 00:00:00

abstract：:Lung disease is the major cause of death in cystic fibrosis (CF), but there is no evidence for overt lung involvement at birth. We show here that the same is true for the gene targeted cftrm1HGU mutant mouse. Furthermore, this CF mouse model demonstrates an impaired capacity to clear Staphylococcus aureus and Burkhold...

journal_title：Nature genetics

authors： Davidson DJ,Dorin JR,McLachlan G,Ranaldi V,Lamb D,Doherty C,Govan J,Porteous DJ

更新日期：1995-04-01 00:00:00

abstract：:Several attributes intuitively considered to be typical mammalian features, such as complex behavior, live birth and malignant disease such as cancer, also appeared several times independently in lower vertebrates. The genetic mechanisms underlying the evolution of these elaborate traits are poorly understood. The pla...

journal_title：Nature genetics

authors： Schartl M,Walter RB,Shen Y,Garcia T,Catchen J,Amores A,Braasch I,Chalopin D,Volff JN,Lesch KP,Bisazza A,Minx P,Hillier L,Wilson RK,Fuerstenberg S,Boore J,Searle S,Postlethwait JH,Warren WC

更新日期：2013-05-01 00:00:00

abstract：:Recent studies indicate that a subclass of APOBEC cytidine deaminases, which convert cytosine to uracil during RNA editing and retrovirus or retrotransposon restriction, may induce mutation clusters in human tumors. We show here that throughout cancer genomes APOBEC-mediated mutagenesis is pervasive and correlates wit...

journal_title：Nature genetics

authors： Roberts SA,Lawrence MS,Klimczak LJ,Grimm SA,Fargo D,Stojanov P,Kiezun A,Kryukov GV,Carter SL,Saksena G,Harris S,Shah RR,Resnick MA,Getz G,Gordenin DA

更新日期：2013-09-01 00:00:00

abstract：:The combination of inhibition of RNA degradation and comparative genomic scanning is a powerful new method for detecting gene disruptions. The utility of the method is well-illustrated by a series of observations linking the ephrin receptor EPHB2 to prostate cancer. ...

journal_title：Nature genetics

authors： Mercola D,Welsh J

更新日期：2004-09-01 00:00:00

abstract：:Because only a small fraction of asbestos-exposed individuals develop malignant mesothelioma, and because mesothelioma clustering is observed in some families, we searched for genetic predisposing factors. We discovered germline mutations in the gene encoding BRCA1 associated protein-1 (BAP1) in two families with a hi...

journal_title：Nature genetics

authors： Testa JR,Cheung M,Pei J,Below JE,Tan Y,Sementino E,Cox NJ,Dogan AU,Pass HI,Trusa S,Hesdorffer M,Nasu M,Powers A,Rivera Z,Comertpay S,Tanji M,Gaudino G,Yang H,Carbone M

更新日期：2011-08-28 00:00:00

abstract：:Familial hyperkalemic hypertension (FHHt) is a Mendelian form of arterial hypertension that is partially explained by mutations in WNK1 and WNK4 that lead to increased activity of the Na(+)-Cl(-) cotransporter (NCC) in the distal nephron. Using combined linkage analysis and whole-exome sequencing in two families, we i...

journal_title：Nature genetics

authors： Louis-Dit-Picard H,Barc J,Trujillano D,Miserey-Lenkei S,Bouatia-Naji N,Pylypenko O,Beaurain G,Bonnefond A,Sand O,Simian C,Vidal-Petiot E,Soukaseum C,Mandet C,Broux F,Chabre O,Delahousse M,Esnault V,Fiquet B,Houillier

更新日期：2012-03-11 00:00:00